Familial hypoparathyroidism
Gene: AIREEnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 13 panels
1 review
Teresa Zhao (Victorian Clinical Genetics Services)
AD inheritance has been reported in a single family (OMIM)
p.G228W has been shown to have a dominant-negative effect by binding to WT AIRE (OMIM)Created: 3 Mar 2020, 12:34 a.m. | Last Modified: 3 Mar 2020, 12:34 a.m.
Panel Version: 0.1590
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Autoimmune polyendocrine syndrome type 1 MONDO:0009411
- OMIM
- 607358
- Clinvar variants
- Variants in AIRE
- Penetrance
- None
- Panels with this gene
-
- Disorders of immune dysregulation
- Calcium and Phosphate disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Susceptibility to Fungal Infections
- Mendeliome
- Familial hypoparathyroidism
- BabyScreen+ newborn screening
- Syndromic Retinopathy
- Renal Tubulopathies and related disorders
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Congenital Diarrhoea
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aire has been classified as Green List (High Evidence).
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: AIRE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aire has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AIRE was added gene: AIRE was added to Familial hypoparathyroidism. Sources: NHS GMS Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to Autoimmune polyendocrine syndrome type 1 MONDO:0009411 Review for gene: AIRE was set to GREEN